ArticleFrontiers in genetics2014
Low-normal FMR1 CGG repeat length: phenotypic associations.
Article in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Trial
- Discourse Marker Use in Mothers of Autistic Individuals and FMR1 Premutation Carriers.Journal of autism and developmental disorders · 2026Article
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Regulation of Bone Morphogenetic Protein Receptor Type II Expression byInternational journal of molecular sciences · 2024Article
- Native functions of short tandem repeats.eLife · 2023Article
- FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023Article
- Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis.Journal of neuroinflammation · 2021Article
- A Unique Visual Attention Profile Associated With theFrontiers in genetics · 2021Article
- IsFrontiers in psychiatry · 2021Article
- The Phenotypic Profile Associated With theFrontiers in psychiatry · 2021Article
- Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.Physiology & behavior · 2020Article
- Development and Validation of a Mathematical Model to Predict the Complexity ofFrontiers in genetics · 2020Article
- Article
- Data-driven phenotype discovery ofScience advances · 2019Article
- Vagal Tone as a Putative Mechanism for Pragmatic Competence: An Investigation of Carriers of the FMR1 Premutation.Journal of autism and developmental disorders · 2019Article
- FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Curvilinear Association Between Language Disfluency andFrontiers in genetics · 2018Article
- Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.Journal of genetic counseling · 2017Article
- Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.JBRA assisted reproduction · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
This population-based study investigates genotype-phenotype correlations of "low- normal" CGG repeats in the fragile X mental retardation 1 (FMR1) gene. FMR1 plays an important role in brain development and function, and encodes FMRP (fragile X mental retardation protein), an RNA-binding protein that regulates protein synthesis impacting activity-dependent synaptic development and plasticity. Most past research has focused on CGG premutation expansions (41-200 CGG repeats) and on fragile X syndrome (200+ CGG repeats), with considerably less attention on the other end of the spectrum of CGG repeats. Using existing data, older adults with 23 or fewer CGG repeats (2 SDs below the mean) were compared with age-peers who have normal numbers of CGGs (24-40) with respect to cognition, mental health, cancer, and having children with disabilities. Men (n = 341 with an allele in the low-normal range) and women (n = 46 with two low-normal alleles) had significantly more difficulty with their memory and ability to solve day to day problems. Women with both FMR1 alleles in the low-normal category had significantly elevated odds of feeling that they need to drink more to get the same effect as in the past. These women also had two and one-half times the odds of having had breast cancer and four times the odds of uterine cancer. Men and women with low-normal CGGs had higher odds of having a child with a disability, either a developmental disability or a mental health condition. These findings are in line with the hypothesis that there is a need for tight neuronal homeostatic control mechanisms for optimal cognitive and behavioral functioning, and more generally that low numbers as well as high numbers of CGG repeats may be problematic for health.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.